• 4343 Citations
  • 34 h-Index
1991 …2020

Research output per year

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Fingerprint Dive into the research topics where Kenjiro Kosaki is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

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Research Output

A call for global action for rare diseases in Africa

Baynam, G. S., Groft, S., van der Westhuizen, F. H., Gassman, S. D., du Plessis, K., Coles, E. P., Selebatso, E., Selebatso, M., Gaobinelwe, B., Selebatso, T., Joel, D., Llera, V. A., Vorster, B. C., Wuebbels, B., Djoudalbaye, B., Austin, C. P., Kumuthini, J., Forman, J., Kaufmann, P., Chipeta, J. & 30 others, Gavhed, D., Larsson, A., Stojiljkovic, M., Nordgren, A., Roldan, E. J. A., Taruscio, D., Wong-Rieger, D., Nowak, K., Bilkey, G. A., Easteal, S., Bowdin, S., Reichardt, J. K. V., Beltran, S., Kosaki, K., van Karnebeek, C. D. M., Gong, M., Shuyang, Z., Mehrian-Shai, R., Adams, D. R., Puri, R. D., Zhang, F., Pachter, N., Muenke, M., Nellaker, C., Gahl, W. A., Cederroth, H., Broley, S., Schoonen, M., Boycott, K. M. & Posada, M., 2020 Jan 1, In : Nature genetics. 52, 1, p. 21-26 6 p.

Research output: Contribution to journalComment/debate

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles

Fukaishi, T., Minami, I., Masuda, S., Miyachi, Y., Tsujimoto, K., Izumiyama, H., Hashimoto, K., Yoshida, M., Takahashi, S., Kashimada, K., Morio, T., Kosaki, K., Maezawa, Y., Yokote, K., Yoshimoto, T. & Yamada, T., 2020, In : Endocrine journal. 67, 2, p. 211-218 8 p.

Research output: Contribution to journalArticle

Open Access
  • A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

    Yokoi, T., Enomoto, Y., Uehara, T., Kosaki, K. & Kurosawa, K., 2020 Dec 1, In : Human Genome Variation. 7, 1, 22.

    Research output: Contribution to journalArticle

    Open Access
  • ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

    Sasaki, M., Sumitomo, N., Shimizu-Motohashi, Y., Takeshita, E., Kurosawa, K., Kosaki, K., Iwama, K., Mizuguchi, T. & Matsumoto, N., 2020, (Accepted/In press) In : Developmental Medicine and Child Neurology.

    Research output: Contribution to journalArticle

  • Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

    Uehara, T., Yamada, M., Umetsu, S., Nittono, H., Suzuki, H., Fujisawa, T., Takenouchi, T., Inui, A. & Kosaki, K., 2020 Jun, In : Journal of Pediatrics. 221, p. 251-254 4 p.

    Research output: Contribution to journalArticle

  • 1 Citation (Scopus)